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The human CHMP2B cDNA containing a missense mutation in the splice acceptor site of exon 6 that is a mutation identified in human familial FTD, and tagged with two hemagglutinin sequences, is under the control of the mouse Thy1.2 promoter. The transgene integrated within chromosome 10: 98950250-98968278 in the Atp1b1 gene within the large first intron. Atp2b1 mRNA levels are not modified although a trend of a decrease is seen in homozygous mice. One line was established. (J:237873)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
